Genomic insights into inherited bone marrow failure syndromes: a single-center clinical study

Kyle Dillahunt; Georgianne Younger; Madeline Van Der Graaf; Bharatendu Chandra; Moon Ley Tung

doi:10.20517/jtgg.2024.88

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Genomic insights into inherited bone marrow failure syndromes: a single-center clinical study

Journal article

Open access

Genomic insights into inherited bone marrow failure syndromes: a single-center clinical study

Kyle Dillahunt, Georgianne Younger, Madeline Van Der Graaf, Bharatendu Chandra and Moon Ley Tung

Journal of Translational Genetics and Genomics, Vol.9(2), pp.76-89

04/29/2025

DOI: 10.20517/jtgg.2024.88

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Abstract

Aim : Inherited Bone Marrow Failure Syndromes (IBMFS) are increasingly diagnosed in both pediatrics and adults presenting with cytopenias, myelodysplastic syndrome, and acute leukemia due to increased awareness among providers. Given the multi-organ involvement in IBMFS, the referrals for genetic testing have extended to individuals with pulmonary fibrosis, liver cirrhosis, and concerns for cancer predisposition in other solid tumors. The purpose of this study is to highlight the real-world data of genetic testing in an Inherited Bone Marrow Failure clinic and the challenges faced. Method : Patients who were referred to the Medical Genetics and Genomics Outpatient Clinic for evaluation of a suspected underlying IBMFS at the University of Iowa from January 2023 to September 2024 were enrolled in this study. Clinical phenotypes, reasons for referrals, and genetic testing results were recorded and analyzed. Result: A total of 16 individuals from 15 families were enrolled in this study during this period. Clinical-grade genetic testing yielded a diagnosis in 50% of the patients, with a predominance of patients diagnosed with a telomere biology disorder. Conclusion: Early diagnosis of an underlying IBMFS is important to reduce mortality and morbidity. Genomic testing is crucial to provide an accurate diagnosis and appropriate management, including donor selection when hematopoietic stem cell transplant is a treatment option.

Inherited bone marrow failure syndromes

myelodysplastic syndrome

acute leukemia

pulmonary fibrosis

liver cirrhosis

cancer predisposition to solid tumors

Details

Title: Subtitle: Genomic insights into inherited bone marrow failure syndromes: a single-center clinical study
Creators: Kyle Dillahunt - University of Iowa
Georgianne Younger - University of Iowa
Madeline Van Der Graaf - University of Iowa
Bharatendu Chandra - University of Iowa
Moon Ley Tung - University of Iowa
Resource Type: Journal article
Publication Details: Journal of Translational Genetics and Genomics, Vol.9(2), pp.76-89
DOI: 10.20517/jtgg.2024.88
ISSN: 2578-5281
eISSN: 2578-5281
Publisher: OAE PUBLISHING INC; ALHAMBRA
Grant note: University of Iowa Stead Family Department of Pediatrics Research Grant Program
This work was supported by the University of Iowa Stead Family Department of Pediatrics Research Grant Program.
Language: English
Date published: 04/29/2025
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984820567302771

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